C3orf18
Chromosome 3 Open Reading Frame 18
Gene Information Card
| Symbol | C3orf18 |
|---|---|
| Full Name | Chromosome 3 Open Reading Frame 18 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q13.13 |
| NCBI Gene ID | 51141 ncbi.nlm.nih.gov/gene/51141 |
| Ensembl ID | ENSG00000163823 |
| UniProt ID | Q9H0R4 |
| OMIM ID | Not available |
| HGNC ID | 25186 |
| Aliases | FLJ10968, MGC138499 |
Description
C3orf18 is a protein-coding gene located on chromosome 3q13.13. The encoded protein has no well-characterized function, but transcript expression has been detected in various tissues. Limited data from large-scale sequencing projects suggest potential roles in cellular processes, though specific biological functions remain to be elucidated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 3.1 | Low |
| Prostate | 2.8 | Low |
| Adrenal gland | 2.5 | Low |
| Brain | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Low expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Synonymous | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Protein Summary
The C3orf18 protein (UniProt Q9H0R4) is 234 amino acids long with no characterized domains or known function. It is predicted to be intracellular, but subcellular localization and interaction partners remain unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C3orf18 Knockout HEK293 Cell Line | EDJ-KQ10957 | Human | 51161 | Details Get a Quote |
| C3orf18 Knockout HCT 116 Cell Line | EDJ-KQ37459 | Human | 51161 | Details Get a Quote |
| C3orf18 Knockout A-549 Cell Line | EDJ-KQ38760 | Human | 51161 | Details Get a Quote |
| C3orf18 Knockout HeLa Cell Line | EDJ-KQ38762 | Human | 51161 | Details Get a Quote |
